Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.C1536R
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NOTCH1

NM_017617.5:p.C1536R

Associated Papers

DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects.

Dombrowsky G et al.

Genome Medicine, 2026

41501857 (PubMed )
Supplement: 13073_2025_1587_MOESM1_ESM.xlsx › Table_S3

The Mutational Spectrum of Pre- and Post-Neoadjuvant Chemotherapy Triple-Negative Breast Cancers.

Aguilar-Mahecha A et al.

Genes, 2023

38254917 (PubMed )
Supplement: genes-15-00027-s001.zip › Aguilar-Mahecha_et_al_SupplTables_Finalv2.xlsx › Supp_Table_S10

Genetic insights into non-syndromic Tetralogy of Fallot.

Althali NJ et al.

Frontiers in Physiology, 2022

Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.

Manshaei R et al.

Frontiers in Genetics, 2020

33110418 (PubMed )
Supplement: Data_Sheet_2.zip › SupplementaryTables_FrontiersInGenetics › Supplementary_Table_S13__NOTCH1__BCKDK__DHH_and_KL_missense_variants_details.XLSX › Sheet1
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